Loeys-Dietz Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LYS017 MIFTS: 38	Loeys-Dietz Syndrome 4 Categories: Genetic diseases, Rare diseases, Bone diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Loeys-Dietz Syndrome 4

MalaCards integrated aliases for Loeys-Dietz Syndrome 4:

Name: Loeys-Dietz Syndrome 4 ⁵⁷ ⁵³ ⁷⁵ ²⁹ ⁶ ⁷³

Lds4 ⁵⁷ ⁷⁵

Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations ⁵⁷

Aortic and Cerebral Aneurysm with Arterial Tortuosity and Skeletal Manifestations ⁷⁵

Syndrome, Loeys-Dietz, Type 4 ⁴⁰

Loeys-Dietz Syndrome, Type 4 ¹³

Loeys-Dietz Syndrome Type 4 ⁵³

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
patients do not have ectopia lentis

HPO:

³²

loeys-dietz syndrome 4:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614816

MedGen ⁴² C3553762 CN143719

MeSH ⁴⁴ D055947

UMLS ⁷³ C3553762

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Summaries for Loeys-Dietz Syndrome 4

UniProtKB/Swiss-Prot : ⁷⁵ Loeys-Dietz syndrome 4: An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae.

MalaCards based summary : Loeys-Dietz Syndrome 4, also known as lds4, is related to loeys-dietz syndrome and multilocular clear cell renal cell carcinoma, and has symptoms including wrist sign and steinberg thumb sign. An important gene associated with Loeys-Dietz Syndrome 4 is TGFB2 (Transforming Growth Factor Beta 2), and among its related pathways/superpathways are ErbB signaling pathway and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include skin, and related phenotypes are hypertelorism and high palate

Description from OMIM: 614816

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Related Diseases for Loeys-Dietz Syndrome 4

Diseases related to Loeys-Dietz Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	loeys-dietz syndrome	28.9	TGFB2 TGFB3
2	multilocular clear cell renal cell carcinoma	9.4	TGFB2 TGFB3
3	tuberculoid leprosy	9.3	TGFB2 TGFB3
4	peyronie's disease	9.2	TGFB2 TGFB3
5	mitral valve disease	9.1	TGFB2 TGFB3

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 4:

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Symptoms & Phenotypes for Loeys-Dietz Syndrome 4

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Spine:
scoliosis
spondylolisthesis (rare)

Genitourinary External Genitalia Female:
inguinal hernia

Skeletal:
joint hyperflexibility
tall stature

Skeletal Hands:
arachnodactyly
steinberg thumb sign

Neurologic Central Nervous System:
dural ectasia

Head And Neck Mouth:
high-arched palate
broad or bifid uvula (in some patients)

Skin Nails Hair Skin:
easy bruising
skin striae

Respiratory Lung:
emphysema (rare)
pneumothorax (rare)

Skeletal Limbs:
wrist sign

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Face:
retrognathia

Cardiovascular Vascular:
aortic dissection
arterial tortuosity
aortic root aneurysm
cerebrovascular aneurysm (in some patients)
fusiform dilation and tortuosity of cerebrovascular arteries

Cardiovascular Heart:
mitral valve prolapse
bicuspid aortic valve (rare)

Skeletal Feet:
flat feet
club feet (in some patients)

Head And Neck Eyes:
hypertelorism (in some patients)
downslanting palpebral fissures (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skeletal Pelvis:
protrusio acetabularis

Clinical features from OMIM:

614816

Human phenotypes related to Loeys-Dietz Syndrome 4:

³² (show all 21)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³²	occasional (7.5%)	HP:0000316
2	high palate ³²		HP:0000218
3	scoliosis ³²		HP:0002650
4	inguinal hernia ³²		HP:0000023
5	pes planus ³²		HP:0001763
6	emphysema ³²	occasional (7.5%)	HP:0002097
7	retrognathia ³²		HP:0000278
8	joint hyperflexibility ³²		HP:0005692
9	bicuspid aortic valve ³²	occasional (7.5%)	HP:0001647
10	aortic dissection ³²		HP:0002647
11	arachnodactyly ³²		HP:0001166
12	mitral valve prolapse ³²		HP:0001634
13	dural ectasia ³²		HP:0100775
14	downslanted palpebral fissures ³²	occasional (7.5%)	HP:0000494
15	spondylolisthesis ³²	occasional (7.5%)	HP:0003302
16	talipes equinovarus ³²	occasional (7.5%)	HP:0001762
17	bruising susceptibility ³²		HP:0000978
18	tall stature ³²		HP:0000098
19	abnormality of the sternum ³²		HP:0000766
20	pneumothorax ³²	occasional (7.5%)	HP:0002107
21	arterial tortuosity ³²		HP:0005116

UMLS symptoms related to Loeys-Dietz Syndrome 4:

wrist sign, steinberg thumb sign

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Drugs & Therapeutics for Loeys-Dietz Syndrome 4

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 4

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Genetic Tests for Loeys-Dietz Syndrome 4

Genetic tests related to Loeys-Dietz Syndrome 4:

#	Genetic test	Affiliating Genes
1	Loeys-Dietz Syndrome 4 ²⁹	TGFB2

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Anatomical Context for Loeys-Dietz Syndrome 4

MalaCards organs/tissues related to Loeys-Dietz Syndrome 4:

⁴¹

Skin

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Publications for Loeys-Dietz Syndrome 4

Articles related to Loeys-Dietz Syndrome 4:

#	Title	Authors	Year
1	Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. ( 27440102 )	Mazzella J.M....Albuisson J.	2016
2	Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. ( 24440784 )	Fontana P....Melis D.	2014
3	Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. ( 25163805 )	Ritelli M....Colombi M.	2014

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Genes for Loeys-Dietz Syndrome 4

Genes related to Loeys-Dietz Syndrome 4 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	1354.03	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	22772371 20301312 25046559 (more) 22772368
2	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	444.68	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301312
3	TGFB2-AS1	TGFB2 Antisense RNA 1 (Head To Head)	RNA Gene	8.11	GeneCards inferred via : Variants (show sections)

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Variations for Loeys-Dietz Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 4:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	TGFB2	p.Arg299Trp	VAR_068932	rs863223792
2	TGFB2	p.Arg302Cys	VAR_068933	rs869312903
3	TGFB2	p.Pro338His	VAR_068934	rs387907278

ClinVar genetic disease variations for Loeys-Dietz Syndrome 4:

⁶

(show top 50) (show all 172)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TGFB2	NM_001135599.3(TGFB2): c.1097C> A (p.Pro366His)	single nucleotide variant	Pathogenic	rs387907278	GRCh37	Chromosome 1, 218610765: 218610765
2	TGFB2	NM_001135599.3(TGFB2): c.1097C> A (p.Pro366His)	single nucleotide variant	Pathogenic	rs387907278	GRCh38	Chromosome 1, 218437423: 218437423
3	TGFB2	NM_001135599.3(TGFB2): c.771C> A (p.Cys257Ter)	single nucleotide variant	Pathogenic	rs398122885	GRCh37	Chromosome 1, 218607723: 218607723
4	TGFB2	NM_001135599.3(TGFB2): c.771C> A (p.Cys257Ter)	single nucleotide variant	Pathogenic	rs398122885	GRCh38	Chromosome 1, 218434381: 218434381
5	TGFB3	NM_003239.4(TGFB3): c.899G> A (p.Arg300Gln)	single nucleotide variant	Likely pathogenic	rs587777617	GRCh37	Chromosome 14, 76429686: 76429686
6	TGFB3	NM_003239.4(TGFB3): c.899G> A (p.Arg300Gln)	single nucleotide variant	Likely pathogenic	rs587777617	GRCh38	Chromosome 14, 75963343: 75963343
7	TGFB2	NM_001135599.2(TGFB2): c.703G> C (p.Val235Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs10482810	GRCh37	Chromosome 1, 218607532: 218607532
8	TGFB2	NM_001135599.2(TGFB2): c.703G> C (p.Val235Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs10482810	GRCh38	Chromosome 1, 218434190: 218434190
9	TGFB3	NM_003239.4(TGFB3): c.559G> A (p.Gly187Ser)	single nucleotide variant	Uncertain significance	rs201063101	GRCh37	Chromosome 14, 76437556: 76437556
10	TGFB3	NM_003239.4(TGFB3): c.559G> A (p.Gly187Ser)	single nucleotide variant	Uncertain significance	rs201063101	GRCh38	Chromosome 14, 75971213: 75971213
11	TGFB3	NM_003239.4(TGFB3): c.487C> T (p.Arg163Trp)	single nucleotide variant	Uncertain significance	rs142601521	GRCh37	Chromosome 14, 76437927: 76437927
12	TGFB3	NM_003239.4(TGFB3): c.487C> T (p.Arg163Trp)	single nucleotide variant	Uncertain significance	rs142601521	GRCh38	Chromosome 14, 75971584: 75971584
13	TGFB3	NM_003239.4(TGFB3): c.293C> T (p.Ser98Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142047577	GRCh38	Chromosome 14, 75980601: 75980601
14	TGFB3	NM_003239.4(TGFB3): c.293C> T (p.Ser98Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142047577	GRCh37	Chromosome 14, 76446944: 76446944
15	TGFB3	NM_003239.4(TGFB3): c.898C> T (p.Arg300Trp)	single nucleotide variant	Pathogenic	rs796051885	GRCh37	Chromosome 14, 76429687: 76429687
16	TGFB3	NM_003239.4(TGFB3): c.898C> T (p.Arg300Trp)	single nucleotide variant	Pathogenic	rs796051885	GRCh38	Chromosome 14, 75963344: 75963344
17	TGFB2	NM_003238.3(TGFB2): c.356C> T (p.Pro119Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149533093	GRCh37	Chromosome 1, 218578520: 218578520
18	TGFB2	NM_003238.3(TGFB2): c.356C> T (p.Pro119Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149533093	GRCh38	Chromosome 1, 218405178: 218405178
19	TGFB2	NM_003238.3(TGFB2): c.895C> T (p.Arg299Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs863223792	GRCh37	Chromosome 1, 218609452: 218609452
20	TGFB2	NM_003238.3(TGFB2): c.895C> T (p.Arg299Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs863223792	GRCh38	Chromosome 1, 218436110: 218436110
21	TGFB3	NM_003239.4(TGFB3): c.521T> A (p.Leu174His)	single nucleotide variant	Uncertain significance	rs869025534	GRCh38	Chromosome 14, 75971251: 75971251
22	TGFB3	NM_003239.4(TGFB3): c.521T> A (p.Leu174His)	single nucleotide variant	Uncertain significance	rs869025534	GRCh37	Chromosome 14, 76437594: 76437594
23	TGFB2	NM_001135599.3(TGFB2): c.297C> A (p.Tyr99Ter)	single nucleotide variant	Pathogenic	rs760759052	GRCh37	Chromosome 1, 218520340: 218520340
24	TGFB2	NM_001135599.3(TGFB2): c.297C> A (p.Tyr99Ter)	single nucleotide variant	Pathogenic	rs760759052	GRCh38	Chromosome 1, 218346998: 218346998
25	TGFB2	NM_001135599.2(TGFB2): c.988C> T (p.Arg330Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs869312903	GRCh37	Chromosome 1, 218609461: 218609461
26	TGFB2	NM_001135599.2(TGFB2): c.988C> T (p.Arg330Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs869312903	GRCh38	Chromosome 1, 218436119: 218436119
27	TGFB2	NM_001135599.3(TGFB2): c.1106_1110delACAAT (p.Tyr369Cysfs)	deletion	Pathogenic	rs398122884	GRCh37	Chromosome 1, 218610774: 218610778
28	TGFB2	NM_001135599.3(TGFB2): c.1106_1110delACAAT (p.Tyr369Cysfs)	deletion	Pathogenic	rs398122884	GRCh38	Chromosome 1, 218437432: 218437436
29	covers 21 genes, none of which curated to show dosage sensitivity	NC_000001.10: g.(215588712_?)_(?_222145072)del	deletion	Pathogenic		GRCh37	Chromosome 1, 215588712: 222145072
30	TGFB2	NC_000001.10: g.(216672181_?)_(?_220202575)del	deletion	Pathogenic		GRCh37	Chromosome 1, 216672181: 220202575
31	TGFB2	NM_001135599.3(TGFB2): c.594+38_594+43dupGTTGTT	duplication	Conflicting interpretations of pathogenicity	rs10482769	GRCh38	Chromosome 1, 218405370: 218405375
32	TGFB2	NM_001135599.3(TGFB2): c.594+38_594+43dupGTTGTT	duplication	Conflicting interpretations of pathogenicity	rs10482769	GRCh37	Chromosome 1, 218578712: 218578717
33	TGFB3	NM_003239.4(TGFB3): c.1122C> G (p.Ala374=)	single nucleotide variant	Benign/Likely benign	rs4252345	GRCh37	Chromosome 14, 76425647: 76425647
34	TGFB3	NM_003239.4(TGFB3): c.1122C> G (p.Ala374=)	single nucleotide variant	Benign/Likely benign	rs4252345	GRCh38	Chromosome 14, 75959304: 75959304
35	TGFB3	NM_003239.4(TGFB3): c.873G> A (p.Pro291=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs370006165	GRCh37	Chromosome 14, 76429712: 76429712
36	TGFB3	NM_003239.4(TGFB3): c.873G> A (p.Pro291=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs370006165	GRCh38	Chromosome 14, 75963369: 75963369
37	TGFB3	NM_003239.4(TGFB3): c.744C> A (p.Ile248=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs45477900	GRCh37	Chromosome 14, 76431941: 76431941
38	TGFB3	NM_003239.4(TGFB3): c.744C> A (p.Ile248=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs45477900	GRCh38	Chromosome 14, 75965598: 75965598
39	TGFB3	NM_003239.4(TGFB3): c.420G> A (p.Glu140=)	single nucleotide variant	Likely benign	rs878854609	GRCh38	Chromosome 14, 75971651: 75971651
40	TGFB3	NM_003239.4(TGFB3): c.420G> A (p.Glu140=)	single nucleotide variant	Likely benign	rs878854609	GRCh37	Chromosome 14, 76437994: 76437994
41	TGFB3	NM_003239.4(TGFB3): c.412T> G (p.Ser138Ala)	single nucleotide variant	Uncertain significance	rs201453600	GRCh38	Chromosome 14, 75971659: 75971659
42	TGFB3	NM_003239.4(TGFB3): c.412T> G (p.Ser138Ala)	single nucleotide variant	Uncertain significance	rs201453600	GRCh37	Chromosome 14, 76438002: 76438002
43	TGFB3	NM_003239.4(TGFB3): c.357A> G (p.Glu119=)	single nucleotide variant	Likely benign	rs748598952	GRCh38	Chromosome 14, 75971714: 75971714
44	TGFB3	NM_003239.4(TGFB3): c.357A> G (p.Glu119=)	single nucleotide variant	Likely benign	rs748598952	GRCh37	Chromosome 14, 76438057: 76438057
45	TGFB3	NM_003239.4(TGFB3): c.179C> T (p.Thr60Met)	single nucleotide variant	Likely benign	rs4252315	GRCh38	Chromosome 14, 75980715: 75980715
46	TGFB3	NM_003239.4(TGFB3): c.179C> T (p.Thr60Met)	single nucleotide variant	Likely benign	rs4252315	GRCh37	Chromosome 14, 76447058: 76447058
47	TGFB3	NM_003239.4(TGFB3): c.82A> C (p.Thr28Pro)	single nucleotide variant	Uncertain significance	rs564013964	GRCh37	Chromosome 14, 76447155: 76447155
48	TGFB3	NM_003239.4(TGFB3): c.82A> C (p.Thr28Pro)	single nucleotide variant	Uncertain significance	rs564013964	GRCh38	Chromosome 14, 75980812: 75980812
49	TGFB3	NM_003239.4(TGFB3): c.34C> T (p.Leu12=)	single nucleotide variant	Benign/Likely benign	rs143612445	GRCh37	Chromosome 14, 76447203: 76447203
50	TGFB3	NM_003239.4(TGFB3): c.34C> T (p.Leu12=)	single nucleotide variant	Benign/Likely benign	rs143612445	GRCh38	Chromosome 14, 75980860: 75980860

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Expression for Loeys-Dietz Syndrome 4

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 4.

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Pathways for Loeys-Dietz Syndrome 4

Pathways related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show all 28)

#	Super pathways	Score	Top Affiliating Genes
1	ErbB signaling pathway ¹ ³⁷ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶¹ Renal cell carcinoma ³⁷ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	12.08	TGFB2 TGFB3
2	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.08	TGFB2 TGFB3
3	Th17 cell differentiation ³⁷ Show member pathways Inflammatory bowel disease (IBD) ³⁷ Th1 and Th2 cell differentiation ³⁷	12.05	TGFB2 TGFB3
4	HTLV-I infection ³⁷	12.03	TGFB2 TGFB3
5	Cell cycle ¹ ³⁷	11.98	TGFB2 TGFB3
6	Cyclins and Cell Cycle Regulation ⁶⁴ Show member pathways Cell Cycle Control by BTG Proteins ⁶⁴ Cyclin D associated events in G1 ⁶⁶ G1 Phase ⁶⁶ G1-S Phase Transition ⁶⁴ Phosphorylation of proteins involved in G1/S transition by active Cyclin E-Cdk2 complexes ⁶⁶	11.96	TGFB2 TGFB3
7	Th1 Differentiation Pathway ⁶⁵ Show member pathways IL27-mediated signaling events ¹ IL-6-type cytokine receptor ligand interactions ⁶⁶ Interleukin-6 family signaling ⁶⁶ Interleukin-6 signaling ⁶⁶ Th17 Differentiation Pathway ⁶⁵	11.88	TGFB2 TGFB3
8	Toxoplasmosis ³⁷ Show member pathways Leishmaniasis ³⁷	11.87	TGFB2 TGFB3
9	Wnt / Hedgehog / Notch ⁴	11.85	TGFB2 TGFB3
10	Tuberculosis ³⁷	11.84	TGFB2 TGFB3
11	Dilated cardiomyopathy (DCM) ³⁷ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁷	11.81	TGFB2 TGFB3
12	Colorectal Cancer Metastasis ⁶⁴	11.78	TGFB2 TGFB3
13	Cellular senescence (KEGG) ³⁷	11.75	TGFB2 TGFB3
14	Hippo signaling pathway ³⁷	11.72	TGFB2 TGFB3
15	SMAD Signaling Network ⁶⁴	11.66	TGFB2 TGFB3
16	FoxO signaling pathway ³⁷ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.66	TGFB2 TGFB3
17	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.51	TGFB2 TGFB3
18	Amoebiasis ³⁷	11.48	TGFB2 TGFB3
19	TGF-beta Signaling Pathways ⁶⁵	11.46	TGFB2 TGFB3
20	Rheumatoid arthritis ³⁷	11.41	TGFB2 TGFB3
21	Angiogenesis (CST) ⁴	11.38	TGFB2 TGFB3
22	TGF-beta signaling pathway (KEGG) ³⁷	11.33	TGFB2 TGFB3
23	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	11.23	TGFB2 TGFB3
24	P38 MAPK Signaling Pathway (sino) ⁶⁷	11.11	TGFB2 TGFB3
25	ECM proteoglycans ⁶⁶	11.01	TGFB2 TGFB3
26	Mitotic Roles of Polo Like Kinases ⁶⁴	10.88	TGFB2 TGFB3
27	Malaria ³⁷	10.65	TGFB2 TGFB3
28	Extracellular vesicle-mediated signaling in recipient cells ¹	10.1	TGFB2 TGFB3

Sources

GO Terms for Loeys-Dietz Syndrome 4

Cellular components related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix	GO:0031012	8.96	TGFB2 TGFB3
2	platelet alpha granule lumen	GO:0031093	8.62	TGFB2 TGFB3

Biological processes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show all 23)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of cell proliferation	GO:0042127	9.61	TGFB2 TGFB3
2	response to hypoxia	GO:0001666	9.61	TGFB2 TGFB3
3	platelet degranulation	GO:0002576	9.6	TGFB2 TGFB3
4	transforming growth factor beta receptor signaling pathway	GO:0007179	9.59	TGFB2 TGFB3
5	BMP signaling pathway	GO:0030509	9.58	TGFB2 TGFB3
6	wound healing	GO:0042060	9.58	TGFB2 TGFB3
7	roof of mouth development	GO:0060021	9.57	TGFB2 TGFB3
8	SMAD protein signal transduction	GO:0060395	9.56	TGFB2 TGFB3
9	cell development	GO:0048468	9.55	TGFB2 TGFB3
10	regulation of MAPK cascade	GO:0043408	9.54	TGFB2 TGFB3
11	inner ear development	GO:0048839	9.52	TGFB2 TGFB3
12	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	9.51	TGFB2 TGFB3
13	positive regulation of cell division	GO:0051781	9.49	TGFB2 TGFB3
14	positive regulation of epithelial to mesenchymal transition	GO:0010718	9.48	TGFB2 TGFB3
15	response to progesterone	GO:0032570	9.46	TGFB2 TGFB3
16	positive regulation of protein secretion	GO:0050714	9.43	TGFB2 TGFB3
17	odontogenesis	GO:0042476	9.4	TGFB2 TGFB3
18	cell-cell junction organization	GO:0045216	9.37	TGFB2 TGFB3
19	cell growth	GO:0016049	9.32	TGFB2 TGFB3
20	secondary palate development	GO:0062009	9.26	TGFB2 TGFB3
21	salivary gland morphogenesis	GO:0007435	9.16	TGFB2 TGFB3
22	negative regulation of macrophage cytokine production	GO:0010936	8.96	TGFB2 TGFB3
23	uterine wall breakdown	GO:0042704	8.62	TGFB2 TGFB3

Molecular functions related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytokine activity	GO:0005125	9.37	TGFB2 TGFB3
2	growth factor activity	GO:0008083	9.32	TGFB2 TGFB3
3	transforming growth factor beta receptor binding	GO:0005160	9.26	TGFB2 TGFB3
4	BMP receptor binding	GO:0070700	9.16	TGFB2 TGFB3
5	type II transforming growth factor beta receptor binding	GO:0005114	8.96	TGFB2 TGFB3
6	type III transforming growth factor beta receptor binding	GO:0034714	8.62	TGFB2 TGFB3

Sources

Sources for Loeys-Dietz Syndrome 4

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

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¹² Disease Ontology

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¹⁶ DrugBank

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

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²⁵ Genetics Home Reference

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²⁷ GEO DataSets

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⁷⁶ Wikipedia